Ophthalmologic Findings in Biotinidase Deficiency

Biotinidase deficiency is an autosomal recessively inherited metabolic disorder characterized by neurological and cutaneous manifestations and metabolic abnormalities. We studied 78 symptomatic children and found that 51% had ophthalmologic abnormalities. These include infections (30%), optic neurop...

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Bibliographic Details
Published inOphthalmologica (Basel) Vol. 206; no. 4; pp. 177 - 181
Main Authors Salbert, Bonnie Anne, Astruc, Juan, Wolf, Barry
Format Journal Article
LanguageEnglish
Published Basel, Switzerland Karger 01.01.1993
Subjects
Amidohydrolases - deficiency
Biological and medical sciences
Biotinidase
Child
Child, Preschool
Errors of metabolism
Eye Diseases - diagnosis
Humans
Infant
Infant, Newborn
Medical sciences
Metabolic diseases
Miscellaneous hereditary metabolic disorders
Original Paper
Biotinidase deficiency
Optic atrophy
Conjunctivitis
Ophthalmologic abnormalities
Human
Eye disease
Skin disease
Nervous system diseases
Biotinidase
Enzyme
Deficiency
Metabolic diseases
Child
Enzymopathy
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Summary:Biotinidase deficiency is an autosomal recessively inherited metabolic disorder characterized by neurological and cutaneous manifestations and metabolic abnormalities. We studied 78 symptomatic children and found that 51% had ophthalmologic abnormalities. These include infections (30%), optic neuropathies and visual disturbances (13%), motility disturbances (13%), retinal pigment changes (4%) and pupillary findings (1%). The most commonly reported findings are optic atrophy and keratoconjunctivities. Although the disorder can be effectively treated with biotin therapy, untreated children are at risk of developing permanent neuro-ophthalmic damage.
Bibliography:ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
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ISSN:0030-3755
1423-0267
DOI:10.1159/000310387